Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms

Abstract

Scientific evidence on the extent to which ethical concerns about privacy, confidentiality, and return of results for whole genome sequencing (WGS) are effectively conveyed by informed consent (IC) is lacking. The aim of this study was to learn, via qualitative interviews, about participant expectations and perceptions of risks, benefits, and harms of WGS. Participants in two families with Miller syndrome consented for WGS were interviewed about their experiences of the IC process and their perceptions of risks, benefits, and harms of WGS. Interviews were transcribed and analyzed for common themes. IC documents are included in the supplementary materials. Participants expressed minimal concerns about privacy and confidentiality with regard to both their participation and sharing of their WGS data in restricted access databases. Participants expressed strong preferences about how results should be returned, requesting both flexibility of the results return process and options for the types of results to be returned. Participant concerns about risks to privacy and confidentiality from broad sharing of WGS data are likely to be strongly influenced by social and medical context. In these families with a rare Mendelian syndrome, the perceived benefits of participation strongly trumped concerns about risks. Individual preferences, for results return, even within a family, varied widely. This underscores the need to develop a framework for results return that allows explicitly for participant preferences and enables modifications to preferences over time. Web-based tools that facilitate participant management of their individual research results could accommodate such a framework.

Research participants’ attitudes towards the confidentiality of genomic sequence information

“…Our results echo other studies that have found attitudes towards personal data sharing in research to be more complex than this, influenced by contextual factors and trust in research institutions. 16,17 Our findings reinforce that when researchers are trusted, many participants do not mind contributing identifiable personal data to multiple research projects provided that they are kept informed, to some extent, about the nature of the research they are contributing to [18][19][20] and that personal data sharing is undertaken more willingly by those who believe that research will yield concrete benefits, either for themselves, society, or both. [19][20][21] We have shown that concerns about personal data sharing are not fully addressed by focusing on the magnitude of the risk of an anonymity breech, and that views about confidentiality have plural origins.…”

Stakeholders’ perspectives on biobank-based genomic research: systematic review of the literature

“…Despite positive attitudes towards data sharing, [40][41][42]49 most respondents in quantitative as well as in qualitative studies stressed the importance of being informed about data-sharing practices and privacy protection measures during the informed consent process. 30,[39][40][41][42][43] In several studies, Table 1 Informed consent requirements in biobank-based genomic research: main findings…”

“…33,36,[39][40][41][42] Regarding concerns and potential risks of biobank-based genomic research and associated data sharing, in several quantitative and qualitative studies, the three groups (patients, the public and professionals) expressed different views ranging from no concerns to raising concerns pertaining to insurance, employment, access to medical care, the disclosure of genomic information about ethnic heritage and stigmatization. 22,24,36,38,40,[42][43][44][45] In two qualitative studies, patients assigned higher priority to the benefit of data sharing for science and society than to potential risks. 40,43 Similar findings were reported in quantitative studies with the public.…”

“…22,24,36,38,40,[42][43][44][45] In two qualitative studies, patients assigned higher priority to the benefit of data sharing for science and society than to potential risks. 40,43 Similar findings were reported in quantitative studies with the public. Although concerns about privacy protection in genomic research exist, they do not influence public's willingness to consent and were rated least important.…”

Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective

“…Studies by Tabor et al 22,23 on the informed consent process in research WGS found that, although all family members involved wanted to receive results related to the condition for which they were being tested, they differed on their desire to receive incidental findings, even among members of the same family. Several participants also felt that it was important to be able to change their preferences between the time of consent and the time of receiving results.…”